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TDP-43 / TARDBP

TAR DNA binding protein

DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR.

Gene Name: TAR DNA binding protein
Synonyms: TARDBP, ALS10, TAR DNA-binding protein-43, TDP-43, TAR DNA binding protein, TAR DNA-binding protein 43, TDP43
Target Sequences: NM_007375 NP_031401.1 Q13148

Publications (4)

1
Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis. Geser F, Brandmeir NJ, Kwong LK, Martinez-Lage M, Elman L, McCluskey L, Xie SX, Lee VM, Trojanowski JQ. Archives of neurology. 2008 65:636-41. [PubMed:18474740]
2
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. Wegorzewska I, Bell S, Cairns NJ, Miller TM, Baloh RH. Proceedings of the National Academy of Sciences of the United States of America. 2009 106:18809-14. [PubMed:19833869] [PMC:PMC2762420]
3
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Mitne-Neto M, Machado-Costa M, Marchetto MC, Bengtson MH, Joazeiro CA, Tsuda H, Bellen HJ, Silva HC, Oliveira AS, Lazar M, Muotri AR, Zatz M. Human molecular genetics. 2011 20:3642-52. [PubMed:21685205] [PMC:PMC3159551]
4
TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes. Kawahara Y, Mieda-Sato A. Proceedings of the National Academy of Sciences of the United States of America. 2012 109:3347-52. [PubMed:22323604] [PMC:PMC3295278]
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The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).